المؤلفون: DeChiara, Carolina, Borghese, Annamaria, Fiorillo, Amedeo, Genesio, Rita, Conti, Anna, D’Amore, Rosa, Pettinato, Guido, Varone, Antonio, Maggi, Giuseppe

المصدر: Child’s Nervous System. August 2002 18(8):380-384

المؤلفون: De Chiara, Annarosaria, Apice, Gaetano, Silvestro, Giustino, Losito, Simona, Botti, Gerardo, Ionna, Francesco, De Rosa, Vincenzo, Borghese, Annamaria, Ninfo, Vito

المصدر: Sarcoma.

مصطلحات موضوعية: body regions, Article Subject, otorhinolaryngologic diseases

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::9ba4e6b6b56ca3c479437d9ed588d7a8

المؤلفون: DeChiara, Carolina, Borghese, Annamaria, Fiorillo, Amedeo, Genesio, Rita, Conti, Anna, D'Amore, Rosa, Pettinato, Guido, Varone, Antonio, Maggi, Giuseppe

المصدر: Child's Nervous System; Aug2002, Vol. 18 Issue 8, p380-384, 5p

المؤلفون: Rita, Genesio, Genesio, Rita, Daniele, De Brasi, De Brasi, Daniele, Anna, Conti, Conti, Anna, Annamaria, Borghese, Borghese, Annamaria, Pasqua, Di Micco, Di Micco, Pasqua, Pasquale, Di Costanzo, Di Costanzo, Pasquale, Dario, Paladini, Paladini, Dario, Paola, Ungaro, Ungaro, Paola, Lucio, Nitsch, Nitsch, Lucio

المساهمون: Genesio, R, DE BRASI, Daniele, Conti, Anna, Borghese, Annamaria, DI MICCO, P, DI COSTANZO, P, Paladini, Dario, Ungaro, Paola, Nitsch, Lucio

المصدر: Scopus-Elsevier
American journal of medical genetics. Part A (Online) 128 (2004): 422–428. doi:10.1002/ajmg.a.30112
info:cnr-pdr/source/autori:Genesio R; De Brasi D; Conti A; Borghese A; Di Micco P; Di Costanzo P; Paladini D; Ungaro P; Nitsch L./titolo:Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype./doi:10.1002%2Fajmg.a.30112/rivista:American journal of medical genetics. Part A (Online)/anno:2004/pagina_da:422/pagina_a:428/intervallo_pagine:422–428/volume:128

مصطلحات موضوعية: Heart Defects, Congenital, Proband, medicine.medical_specialty, Trisomy, Prenatal diagnosis, Biology, Kidney, Intrauterine growth failure, Ultrasonography, Prenatal, Chromosome 15, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion, Chromosomes, Human, Pair 15, Fetal Growth Retardation, Inverted duplication, Infant, Newborn, Karyotype, medicine.disease, Phenotype, Pedigree, Clubfoot, Terminal (electronics), Karyotyping, Chromosome Inversion, Cytogenetic Analysis, Medical genetics, Female, Chromosome Deletion, Microsatellite Repeats

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b635d1c3b1c9f31552e61b055cc9b27
http://www.scopus.com/inward/record.url?eid=2-s2.0-3342957130&partnerID=MN8TOARS

المؤلفون: Paladini, Dario, Borghese, Annamaria, Arienzo, Mariapaola, Teodoro, Adele, Martinelli, Pasquale, Nappi, Carmine

المصدر: Prenatal Diagnosis; Dec2000, Vol. 20 Issue 12, p996-998, 3p

المؤلفون: Genesio R; Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università Federico II, Napoli, Italy., De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2004 Aug 01; Vol. 128A (4), pp. 422-8.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosome Inversion* , Chromosomes, Human, Pair 15* , Phenotype* , Trisomy*, Abnormalities, Multiple/*genetics , Fetal Growth Retardation/*genetics, Abnormalities, Multiple/diagnosis ; Clubfoot/genetics ; Cytogenetic Analysis ; Female ; Heart Defects, Congenital/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Kidney/abnormalities ; Microsatellite Repeats ; Pedigree ; Ultrasonography, Prenatal